Grønskov K - Search Results

1

Increasing the complexity: new genes and new types of albinism.

Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Montoliu L, et al. Among authors: gronskov k. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17. Pigment Cell Melanoma Res. 2014. PMID: 24066960 Review.

2

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Among authors: gronskov k. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.

3

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, Brondum-Nielsen K, Rosenberg T. Grønskov K, et al. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. doi: 10.1167/iovs.08-2639. Epub 2008 Dec 5. Invest Ophthalmol Vis Sci. 2009. PMID: 19060277

4

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

Grønskov K, Dooley CM, Østergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Møllgård K, Stemple DL, Rosenberg T. Grønskov K, et al. Am J Hum Genet. 2013 Mar 7;92(3):415-21. doi: 10.1016/j.ajhg.2013.01.006. Epub 2013 Feb 7. Am J Hum Genet. 2013. PMID: 23395477 Free PMC article.

5

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Grønskov K, Jespersgaard C, Bruun GH, Harris P, Brøndum-Nielsen K, Andresen BS, Rosenberg T. Grønskov K, et al. Sci Rep. 2019 Jan 24;9(1):645. doi: 10.1038/s41598-018-37272-5. Sci Rep. 2019. PMID: 30679655 Free PMC article.

6

[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms].

Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K. Hjortshøj TD, et al. Among authors: gronskov k. Ugeskr Laeger. 2005 May 30;167(22):2394-8. Ugeskr Laeger. 2005. PMID: 15987029 Review. Danish. No abstract available.

7

Absence of NR2E1 mutations in patients with aniridia.

Corso-Díaz X, Borrie AE, Bonaguro R, Schuetz JM, Rosenberg T, Jensen H, Brooks BP, Macdonald IM, Pasutto F, Walter MA, Grønskov K, Brooks-Wilson A, Simpson EM. Corso-Díaz X, et al. Among authors: gronskov k. Mol Vis. 2012;18:2770-82. Epub 2012 Nov 22. Mol Vis. 2012. PMID: 23213277 Free PMC article.

8

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brøndum-Nielsen K, Grønskov K. Almind GJ, et al. Among authors: gronskov k. BMC Med Genet. 2012 Aug 2;13:65. doi: 10.1186/1471-2350-13-65. BMC Med Genet. 2012. PMID: 22857269 Free PMC article.

9

Risk for cancer in patients with Bardet-Biedl syndrome and their relatives.

Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K, Olsen JH. Hjortshøj TD, et al. Among authors: gronskov k. Am J Med Genet A. 2007 Aug 1;143A(15):1699-702. doi: 10.1002/ajmg.a.31805. Am J Med Genet A. 2007. PMID: 17587209

10

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K. Hjortshøj TD, et al. Among authors: gronskov k. Hum Mutat. 2010 Apr;31(4):429-36. doi: 10.1002/humu.21204. Hum Mutat. 2010. PMID: 20120035

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